Canonical Allele Identifier: CA346501360

Gene: SPAST

Linked Data

• ClinVar Variation Id: 586655
• ClinVar RCV Id: RCV000713459 ; RCV001726320
• dbSNP Id: rs1558331867
• MyVariant Identifiers: chr2:g.32353477G>C (hg19) ; chr2:g.32128408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128408G>C , CM000664.2:g.32128408G>C	GRCh38
NC_000002.11:g.32353477G>C , CM000664.1:g.32353477G>C	GRCh37
NC_000002.10:g.32206981G>C	NCBI36
NG_008730.1:g.69798G>C , LRG_714:g.69798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*834G>C	ENSP00000515816.1:n.*834G>C
ENST00000315285.9:c.1174G>C MANE Select	ENSP00000320885.3:p.Ala392Pro
ENST00000621856.2:c.1171G>C	ENSP00000482496.2:p.Ala391Pro
ENST00000642281.1:c.983-8155G>C
ENST00000642455.1:c.1075G>C	ENSP00000493827.1:p.Ala359Pro
ENST00000642751.1:c.948G>C
ENST00000642999.1:c.916G>C	ENSP00000496589.1:p.Ala306Pro
ENST00000643327.1:c.333G>C
ENST00000643334.1:c.754G>C
ENST00000644408.1:c.1050G>C
ENST00000644954.1:c.820G>C	ENSP00000494312.1:p.Ala274Pro
ENST00000645159.1:n.1911G>C
ENST00000645550.1:n.387G>C
ENST00000645671.1:c.624G>C
ENST00000645730.1:c.521G>C
ENST00000646082.1:c.820G>C
ENST00000646571.1:c.1078G>C	ENSP00000495015.1:p.Ala360Pro
ENST00000647007.1:n.866G>C
ENST00000647133.1:c.674G>C
ENST00000315285.7:c.1174G>C	ENSP00000320885.3:p.Ala392Pro
ENST00000345662.5:c.1078G>C	ENSP00000340817.1:p.Ala360Pro
ENST00000615843.4:c.1174G>C	ENSP00000480893.1:p.Ala392Pro
ENST00000621856.1:c.916G>C	ENSP00000482496.1:p.Ala306Pro
NM_014946.3:c.1174G>C , LRG_714t1:c.1174G>C	NP_055761.2:p.Ala392Pro
NM_199436.1:c.1078G>C	NP_955468.1:p.Ala360Pro
XM_005264516.3:c.1171G>C	XP_005264573.1:p.Ala391Pro
XM_011533067.1:c.1174G>C	XP_011531369.1:p.Ala392Pro
NM_001363823.1:c.1171G>C	NP_001350752.1:p.Ala391Pro
NM_001363875.1:c.1075G>C	NP_001350804.1:p.Ala359Pro
XM_005264516.5:c.1171G>C	XP_005264573.1:p.Ala391Pro
XM_011533067.2:c.1174G>C	XP_011531369.1:p.Ala392Pro
XM_017004778.2:c.1078G>C	XP_016860267.1:p.Ala360Pro
NM_001363823.2:c.1171G>C	NP_001350752.1:p.Ala391Pro
NM_001363875.2:c.1075G>C	NP_001350804.1:p.Ala359Pro
NM_001377959.1:c.1078G>C	NP_001364888.1:p.Ala360Pro
NM_014946.4:c.1174G>C MANE Select	NP_055761.2:p.Ala392Pro
NM_199436.2:c.1078G>C	NP_955468.1:p.Ala360Pro